OnlineIMD

Alpha-N-acetylgalactosaminidase deficiency

  • Synonym(s)
    • Schindler disease
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • NAGA / N-acetylgalactosaminidase, alpha
      • 22q13.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • N-acetylgalactosaminidase, alpha
  • Disease group(s)
    • 20.3    Disorders of glycoprotein degradation/oligosaccharidoses
  • Child entries
    • Schindler disease, type 1
    • Kanzaki disease
    • Schindler disease, type 3